{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA226062",
  "communityStandardTitle": [
    "NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=104447[alleleid]",
        "alleleId": 104447,
        "preferredName": "NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/98554",
        "RCV": [
          "RCV000084847",
          "RCV001047937",
          "RCV001250870"
        ],
        "variationId": 98554
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7915789C>T?assembly=hg19",
        "id": "chr17:g.7915789C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.8012471C>T?assembly=hg38",
        "id": "chr17:g.8012471C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61750161",
        "rs": 61750161
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7915789-C-T?dataset=gnomad_r2_1",
        "id": "17-7915789-C-T",
        "variant": "17:7915789 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8012471-C-T?dataset=gnomad_r3",
        "id": "17-8012471-C-T",
        "variant": "17:8012471 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8012471-C-T?dataset=gnomad_r4",
        "id": "17-8012471-C-T",
        "variant": "17:8012471 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 8012471,
          "referenceAllele": "C",
          "start": 8012470
        }
      ],
      "hgvs": [
        "NC_000017.11:g.8012471C>T",
        "CM000679.2:g.8012471C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7915789,
          "referenceAllele": "C",
          "start": 7915788
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7915789C>T",
        "CM000679.1:g.7915789C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7856514,
          "referenceAllele": "C",
          "start": 7856513
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7856514C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14802,
          "referenceAllele": "C",
          "start": 14801
        }
      ],
      "hgvs": [
        "NG_009092.1:g.14802C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001425"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2107,
          "referenceAllele": "C",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "ENST00000254854.5:c.1978C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254854.4:p.Arg660Ter",
        "hgvsWellDefined": "ENSP00000254854.4:p.Arg660_Ser1103delinsGlyValAlaHisGlyArgLeuLysSerArgAsnCysIleValAspGlyArgPheValLeuLysIleThrAspHisGlyHisGlyArgLeuLeuGluAlaGlnLysValLeuProGluProProArgAlaGluAspGlnLeuTrpThrAlaProGluLeuLeuArgAspProAlaLeuGluArgArgGlyThrLeuAlaGlyAspValPheSerLeuAlaIleIleMetGlnGluValValCysArgSerAlaProTyrAlaMetLeuGluLeuThrProGluGluValValGlnArgValArgSerProProProLeuCysArgProLeuValSerMetAspGlnAlaProValGluCysIleLeuLeuMetLysGlnCysTrpAlaGluGlnProGluLeuArgProSerMetAspHisThrPheAspLeuPheLysAsnIleAsnLysGlyArgLysThrAsnIleIleAspSerMetLeuArgMetLeuGluGlnTyrSerSerAsnLeuGluAspLeuIleArgGluArgThrGluGluLeuGluLeuGluLysGlnLysThrAspArgLeuLeuThrGlnMetLeuProProSerValAlaGluAlaLeuLysThrGlyThrProValGluProGluTyrPheGluGlnValThrLeuTyrPheSerAspIleValGlyPheThrThrIleSerAlaMetSerGluProIleGluValValAspLeuLeuAsnAspLeuTyrThrLeuPheAspAlaIleIleGlySerHisAspValTyrLysValGluThrIleGlyAspAlaTyrMetValAlaSerGlyLeuProGlnArgAsnGlyGlnArgHisAlaAlaGluIleAlaAsnMetSerLeuAspIleLeuSerAlaValGlyThrPheArgMetArgHisMetProGluValProValArgIleArgIleGlyLeuHisSerGlyProCysValAlaGlyValValGlyLeuThrMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerThrGlyLeuProTyrArgIleHisValAsnLeuSerThrValGlyIleLeuArgAlaLeuAspSerGlyTyrGlnValGluLeuArgGlyArgThrGluLeuLysGlyLysGlyAlaGluAspThrPheTrpLeuValGlyArgArgGlyPheAsnLysProIleProLysProProAspLeuGlnProGlySerSerAsnHisGlyIleSerLeuGlnGluIleProProGluArgArgArgLysLeuGluLysAlaArgProGlyGlnPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741685",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000254854.5:c.1978C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000180.4:c.1978C>T"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000254854.4:p.Arg660Ter"
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          "RefSeq": {
            "hgvs": "NP_000171.1:p.Arg660Ter"
          }
        }
      }
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    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2128,
          "referenceAllele": "C",
          "start": 2127
        }
      ],
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      "geneNCBI_id": 3000,
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      "hgvs": [
        "ENST00000254854.4:c.1978C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000254854.4:p.Arg660_Ser1103delinsGlyValAlaHisGlyArgLeuLysSerArgAsnCysIleValAspGlyArgPheValLeuLysIleThrAspHisGlyHisGlyArgLeuLeuGluAlaGlnLysValLeuProGluProProArgAlaGluAspGlnLeuTrpThrAlaProGluLeuLeuArgAspProAlaLeuGluArgArgGlyThrLeuAlaGlyAspValPheSerLeuAlaIleIleMetGlnGluValValCysArgSerAlaProTyrAlaMetLeuGluLeuThrProGluGluValValGlnArgValArgSerProProProLeuCysArgProLeuValSerMetAspGlnAlaProValGluCysIleLeuLeuMetLysGlnCysTrpAlaGluGlnProGluLeuArgProSerMetAspHisThrPheAspLeuPheLysAsnIleAsnLysGlyArgLysThrAsnIleIleAspSerMetLeuArgMetLeuGluGlnTyrSerSerAsnLeuGluAspLeuIleArgGluArgThrGluGluLeuGluLeuGluLysGlnLysThrAspArgLeuLeuThrGlnMetLeuProProSerValAlaGluAlaLeuLysThrGlyThrProValGluProGluTyrPheGluGlnValThrLeuTyrPheSerAspIleValGlyPheThrThrIleSerAlaMetSerGluProIleGluValValAspLeuLeuAsnAspLeuTyrThrLeuPheAspAlaIleIleGlySerHisAspValTyrLysValGluThrIleGlyAspAlaTyrMetValAlaSerGlyLeuProGlnArgAsnGlyGlnArgHisAlaAlaGluIleAlaAsnMetSerLeuAspIleLeuSerAlaValGlyThrPheArgMetArgHisMetProGluValProValArgIleArgIleGlyLeuHisSerGlyProCysValAlaGlyValValGlyLeuThrMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerThrGlyLeuProTyrArgIleHisValAsnLeuSerThrValGlyIleLeuArgAlaLeuAspSerGlyTyrGlnValGluLeuArgGlyArgThrGluLeuLysGlyLysGlyAlaGluAspThrPheTrpLeuValGlyArgArgGlyPheAsnLysProIleProLysProProAspLeuGlnProGlySerSerAsnHisGlyIleSerLeuGlnGluIleProProGluArgArgArgLysLeuGluLysAlaArgProGlyGlnPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA226063",
      "coordinates": [
        {
          "allele": "T",
          "end": 2052,
          "referenceAllele": "C",
          "start": 2051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NM_000180.3:c.1978C>T"
      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1978,
          "referenceAllele": "C",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "XM_011523816.1:c.1978C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522118.1:p.Arg660Ter",
        "hgvsWellDefined": "XP_011522118.1:p.Arg660_Ser1103delinsGlyValAlaHisGlyArgLeuLysSerArgAsnCysIleValAspGlyArgPheValLeuLysIleThrAspHisGlyHisGlyArgLeuLeuGluAlaGlnLysValLeuProGluProProArgAlaGluAspGlnLeuTrpThrAlaProGluLeuLeuArgAspProAlaLeuGluArgArgGlyThrLeuAlaGlyAspValPheSerLeuAlaIleIleMetGlnGluValValCysArgSerAlaProTyrAlaMetLeuGluLeuThrProGluGluValValGlnArgValArgSerProProProLeuCysArgProLeuValSerMetAspGlnAlaProValGluCysIleLeuLeuMetLysGlnCysTrpAlaGluGlnProGluLeuArgProSerMetAspHisThrPheAspLeuPheLysAsnIleAsnLysGlyArgLysThrAsnIleIleAspSerMetLeuArgMetLeuGluGlnTyrSerSerAsnLeuGluAspLeuIleArgGluArgThrGluGluLeuGluLeuGluLysGlnLysThrAspArgLeuLeuThrGlnMetLeuProProSerValAlaGluAlaLeuLysThrGlyThrProValGluProGluTyrPheGluGlnValThrLeuTyrPheSerAspIleValGlyPheThrThrIleSerAlaMetSerGluProIleGluValValAspLeuLeuAsnAspLeuTyrThrLeuPheAspAlaIleIleGlySerHisAspValTyrLysValGluThrIleGlyAspAlaTyrMetValAlaSerGlyLeuProGlnArgAsnGlyGlnArgHisAlaAlaGluIleAlaAsnMetSerLeuAspIleLeuSerAlaValGlyThrPheArgMetArgHisMetProGluValProValArgIleArgIleGlyLeuHisSerGlyProCysValAlaGlyValValGlyLeuThrMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerThrGlyLeuProTyrArgIleHisValAsnLeuSerThrValGlyIleLeuArgAlaLeuAspSerGlyTyrGlnValGluLeuArgGlyArgThrGluLeuLysGlyLysGlyAlaGluAspThrPheTrpLeuValGlyArgArgGlyPheAsnLysProIleProLysProProAspLeuGlnProGlySerSerAsnHisGlyIleSerLeuGlnGluIleProProGluArgArgArgLysLeuGluLysAlaArgProGlyGlnPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090949"
    },
    {
      "@id": "http://reg.genome.network/allele/PA226063",
      "coordinates": [
        {
          "allele": "T",
          "end": 2107,
          "referenceAllele": "C",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NM_000180.4:c.1978C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000171.1:p.Arg660Ter",
        "hgvsWellDefined": "NP_000171.1:p.Arg660_Ser1103delinsGlyValAlaHisGlyArgLeuLysSerArgAsnCysIleValAspGlyArgPheValLeuLysIleThrAspHisGlyHisGlyArgLeuLeuGluAlaGlnLysValLeuProGluProProArgAlaGluAspGlnLeuTrpThrAlaProGluLeuLeuArgAspProAlaLeuGluArgArgGlyThrLeuAlaGlyAspValPheSerLeuAlaIleIleMetGlnGluValValCysArgSerAlaProTyrAlaMetLeuGluLeuThrProGluGluValValGlnArgValArgSerProProProLeuCysArgProLeuValSerMetAspGlnAlaProValGluCysIleLeuLeuMetLysGlnCysTrpAlaGluGlnProGluLeuArgProSerMetAspHisThrPheAspLeuPheLysAsnIleAsnLysGlyArgLysThrAsnIleIleAspSerMetLeuArgMetLeuGluGlnTyrSerSerAsnLeuGluAspLeuIleArgGluArgThrGluGluLeuGluLeuGluLysGlnLysThrAspArgLeuLeuThrGlnMetLeuProProSerValAlaGluAlaLeuLysThrGlyThrProValGluProGluTyrPheGluGlnValThrLeuTyrPheSerAspIleValGlyPheThrThrIleSerAlaMetSerGluProIleGluValValAspLeuLeuAsnAspLeuTyrThrLeuPheAspAlaIleIleGlySerHisAspValTyrLysValGluThrIleGlyAspAlaTyrMetValAlaSerGlyLeuProGlnArgAsnGlyGlnArgHisAlaAlaGluIleAlaAsnMetSerLeuAspIleLeuSerAlaValGlyThrPheArgMetArgHisMetProGluValProValArgIleArgIleGlyLeuHisSerGlyProCysValAlaGlyValValGlyLeuThrMetProArgTyrCysLeuPheGlyAspThrValAsnThrAlaSerArgMetGluSerThrGlyLeuProTyrArgIleHisValAsnLeuSerThrValGlyIleLeuArgAlaLeuAspSerGlyTyrGlnValGluLeuArgGlyArgThrGluLeuLysGlyLysGlyAlaGluAspThrPheTrpLeuValGlyArgArgGlyPheAsnLysProIleProLysProProAspLeuGlnProGlySerSerAsnHisGlyIleSerLeuGlnGluIleProProGluArgArgArgLysLeuGluLysAlaArgProGlyGlnPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254854.5:c.1978C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000180.4:c.1978C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254854.4:p.Arg660Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000171.1:p.Arg660Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}